Canonical Allele Identifier: CA349034225
Gene: SCN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 427011
ClinVar RCV Id: RCV000490193 RCV001851317
dbSNP Id: rs1085307898
gnomAD v4: 2-165380701-T-C
MyVariant Identifiers: chr2:g.166237211T>C (hg19) chr2:g.165380701T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.165380701T>C , CM000664.2:g.165380701T>C GRCh38
NC_000002.11:g.166237211T>C , CM000664.1:g.166237211T>C GRCh37
NC_000002.10:g.165945457T>C NCBI36
NG_008143.1:g.146300T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000631182.3:c.4418T>C MANE Plus Clinical ENSP00000486885.1:p.Ile1473Thr
ENST00000375437.7:c.4418T>C MANE Select ENSP00000364586.2:p.Ile1473Thr
ENST00000636071.2:c.4418T>C ENSP00000490107.1:p.Ile1473Thr
ENST00000636135.1:c.*2737T>C ENSP00000489821.1:n.*2737T>C
ENST00000636384.2:c.*2405T>C ENSP00000490765.1:n.*2405T>C
ENST00000636662.2:c.*4941T>C ENSP00000489873.1:n.*4941T>C
ENST00000636769.1:c.*2360T>C ENSP00000490800.1:n.*2360T>C
ENST00000636985.2:c.4022T>C ENSP00000490849.1:p.Ile1341Thr
ENST00000637266.2:c.4418T>C ENSP00000490866.1:p.Ile1473Thr
ENST00000283256.10:c.4418T>C ENSP00000283256.6:p.Ile1473Thr
ENST00000375427.4:c.4418T>C ENSP00000364576.2:p.Ile1473Thr
ENST00000375437.6:c.4418T>C ENSP00000364586.2:p.Ile1473Thr
ENST00000480032.4:n.7486T>C
ENST00000631182.2:c.4418T>C ENSP00000486885.1:p.Ile1473Thr
NM_001040142.1:c.4418T>C NP_001035232.1:p.Ile1473Thr
NM_001040143.1:c.4418T>C NP_001035233.1:p.Ile1473Thr
NM_021007.2:c.4418T>C NP_066287.2:p.Ile1473Thr
XM_005246750.2:c.4418T>C XP_005246807.1:p.Ile1473Thr
XM_005246753.2:c.4418T>C XP_005246810.1:p.Ile1473Thr
XM_005246754.3:c.4388T>C XP_005246811.1:p.Ile1463Thr
XM_005246755.3:c.3665T>C XP_005246812.1:p.Ile1222Thr
XM_011511608.1:c.4418T>C XP_011509910.1:p.Ile1473Thr
XM_011511609.1:c.4418T>C XP_011509911.1:p.Ile1473Thr
XM_005246753.3:c.4418T>C XP_005246810.1:p.Ile1473Thr
XM_017004656.1:c.4418T>C XP_016860145.1:p.Ile1473Thr
XM_017004657.1:c.4418T>C XP_016860146.1:p.Ile1473Thr
XM_017004658.1:c.3665T>C XP_016860147.1:p.Ile1222Thr
XM_017004659.1:c.2216T>C XP_016860148.1:p.Ile739Thr
XM_024453037.1:c.3665T>C XP_024308805.1:p.Ile1222Thr
NM_001040142.2:c.4418T>C MANE Select NP_001035232.1:p.Ile1473Thr
NM_001040143.2:c.4418T>C NP_001035233.1:p.Ile1473Thr
NM_001371246.1:c.4418T>C MANE Plus Clinical NP_001358175.1:p.Ile1473Thr
NM_001371247.1:c.4418T>C NP_001358176.1:p.Ile1473Thr
NM_021007.3:c.4418T>C NP_066287.2:p.Ile1473Thr
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